C. Rocca

发表

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

J. Ragoussis, R. Schüle, L. Schöls, 2022, The New England journal of medicine.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder

K. Bhatia, M. Tinazzi, H. Houlden, 2022, Movement disorders : official journal of the Movement Disorder Society.

Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review

K. Bhatia, R. Maroofian, H. Houlden, 2022, Movement disorders clinical practice.

Biallelic loss of EMC10 leads to mild to severe intellectual disability

H. van Bokhoven, R. Maroofian, H. Houlden, 2022, Annals of clinical and translational neurology.

Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery

H. Houlden, V. Salpietro, Clarissa Rocca, 2022, Frontiers in Neurology.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics

C. Cuppari, G. Farello, E. Gitto, 2022, Journal of Pediatric Neurology.

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

P. Striano, S. Vernes, F. Zara, 2023, Human Genetics.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

Nancy T. Malintan, M. Lythgoe, P. Striano, 2022, bioRxiv.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

A. Need, D. Smedley, C. Tregidgo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

R. Maroofian, R. Abou Jamra, G. Varshney, 2023, Genome Medicine.

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4

C. Blauwendraat, M. Ryten, J. Polke, 2024, Movement disorders : official journal of the Movement Disorder Society.

Ide copy number variant does not influence lesion size and mortality in two C57BL/6J mouse models of cerebrovascular ischemia nor in human cerebrovascular disease. An exploratory study

A. Pagnamenta, Marco Foddis, D. Beule, 2024, bioRxiv.

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

L. Vissers, R. Pfundt, C. Gilissen, 2023, European journal of human genetics : EJHG.